Bile acid biosynthesis in Smith-Lemli-Opitz syndrome bypassing cholesterol: Potential importance of pathway intermediates.

Bile Acids and Salts / biosynthesis Cholesterol / biosynthesis Chromatography, Liquid Dehydrocholesterols / chemistry Humans Lipogenesis / genetics Mass Spectrometry Molecular Docking Simulation Smith-Lemli-Opitz Syndrome / genetics
7-dehydrocholesterol Bile acid Hedgehog signalling pathway High-Performance liquid chromatography Mass spectrometry Oxysterol Smith-Lemli-Opitz syndrome Sterol

Journal

The Journal of steroid biochemistry and molecular biology
ISSN: 1879-1220
Titre abrégé: J Steroid Biochem Mol Biol
Pays: England
ID NLM: 9015483

Informations de publication

Date de publication:
02 2021
Historique:
received: 30 09 2020
revised: 16 11 2020
accepted: 18 11 2020
pubmed: 28 11 2020
medline: 8 5 2021
entrez: 27 11 2020
Statut: ppublish

Résumé

Bile acids are the end products of cholesterol metabolism secreted into bile. They are essential for the absorption of lipids and lipid soluble compounds from the intestine. Here we have identified a series of unusual Δ

Identifiants

DOI: 10.1016/j.jsbmb.2020.105794 PMID: 33246156 PMC: PMC7816163
pubmed: 33246156
pii: S0960-0760(20)30319-8
doi: 10.1016/j.jsbmb.2020.105794
pmc: PMC7816163
pii:
doi:

Substances chimiques

Bile Acids and Salts 0
Dehydrocholesterols 0
Cholesterol 97C5T2UQ7J
7-dehydrocholesterol BK1IU07GKF

Types de publication

Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

105794

Subventions

Organisme : NICHD NIH HHS
ID : R01 HD053036
Pays : United States
Organisme : NIGMS NIH HHS
ID : R35 GM118082
Pays : United States
Organisme : NIGMS NIH HHS
ID : R01 GM106078
Pays : United States
Organisme : Biotechnology and Biological Sciences Research Council
ID : BB/I001735/1
Pays : United Kingdom
Organisme : Biotechnology and Biological Sciences Research Council
ID : BB/N015932/1
Pays : United Kingdom
Organisme : Biotechnology and Biological Sciences Research Council
ID : BB/L001942/1
Pays : United Kingdom

Informations de copyright

Copyright © 2020 The Authors. Published by Elsevier Ltd.. All rights reserved.

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Auteurs

Jonas Abdel-Khalik (J)

Swansea University Medical School, ILS1 Building, Singleton Park, Swansea, SA2 8PP, Wales, UK.

Thomas Hearn (T)

Swansea University Medical School, ILS1 Building, Singleton Park, Swansea, SA2 8PP, Wales, UK.

Alison L Dickson (AL)

Swansea University Medical School, ILS1 Building, Singleton Park, Swansea, SA2 8PP, Wales, UK.

Peter J Crick (PJ)

Swansea University Medical School, ILS1 Building, Singleton Park, Swansea, SA2 8PP, Wales, UK.

Eylan Yutuc (E)

Swansea University Medical School, ILS1 Building, Singleton Park, Swansea, SA2 8PP, Wales, UK.

Karl Austin-Muttitt (K)

Swansea University Medical School, ILS1 Building, Singleton Park, Swansea, SA2 8PP, Wales, UK.

Brian W Bigger (BW)

Stem Cell & Neurotherapies, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, M13 9PT, UK.

Andrew A Morris (AA)

Willink Unit, Manchester Centre for Genomic Medicine, Manchester University Hospitals, Manchester, M13 9WL, UK.

Cedric H Shackleton (CH)

University of California San Francisco (UCSF) Benioff Children's Hospital, Oakland, CA 94609, USA.

Peter T Clayton (PT)

Inborn Errors of Metabolism, Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, 30 Guilford Street, London, WC1N 1EH, UK.

Takashi Iida (T)

Department of Chemistry, College of Humanities & Sciences, Nihon University, Sakurajousui, Setagaya, Tokyo, 156-8550, Japan.

Ria Sircar (R)

Departments of Biochemistry and Medicine, Stanford University School of Medicine, Stanford, CA, 94305, USA.

Rajat Rohatgi (R)

Departments of Biochemistry and Medicine, Stanford University School of Medicine, Stanford, CA, 94305, USA.

Hanns-Ulrich Marschall (HU)

Department of Molecular and Clinical Medicine, University of Gothenburg, Sahlgrenska Academy, Institute of Medicine, Gothenburg, 41345, Sweden.

Jan Sjövall (J)

Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, 17177, Sweden.

Ingemar Björkhem (I)

Division of Clinical Chemistry, Department of Laboratory Medicine, Karolinska Institutet, Karolinska University Hospital Huddinge, Huddinge, 14186, Stockholm, Sweden.

Jonathan G L Mullins (JGL)

Swansea University Medical School, ILS1 Building, Singleton Park, Swansea, SA2 8PP, Wales, UK.

William J Griffiths (WJ)

Swansea University Medical School, ILS1 Building, Singleton Park, Swansea, SA2 8PP, Wales, UK. Electronic address: w.j.griffiths@swansea.ac.uk.

Yuqin Wang (Y)

Swansea University Medical School, ILS1 Building, Singleton Park, Swansea, SA2 8PP, Wales, UK. Electronic address: y.wang@swansea.ac.uk.

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Classifications MeSH

questionsmedicales.fr › Composés polycycliques › Composés à cycles fusionnés › Stéroïdes › Acides et sels biliaires › Bile acid biosynthesis in Smith-Lemli-Opitz...
questionsmedicales.fr › Lipides › Lipides membranaires › Stérols › Cholestérol › Bile acid biosynthesis in Smith-Lemli-Opitz...
questionsmedicales.fr › Techniques d'investigation › Techniques de chimie analytique › Chromatographie › Chromatographie en phase liquide › Bile acid biosynthesis in Smith-Lemli-Opitz...
questionsmedicales.fr › Lipides › Lipides membranaires › Stérols › Cholestérol › Déhydrocholestérols › Bile acid biosynthesis in Smith-Lemli-Opitz...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Bile acid biosynthesis in Smith-Lemli-Opitz...
questionsmedicales.fr › Métabolisme › Métabolisme lipidique › Lipogenèse › Bile acid biosynthesis in Smith-Lemli-Opitz...
questionsmedicales.fr › Techniques d'investigation › Techniques de chimie analytique › Spectrométrie de masse › Bile acid biosynthesis in Smith-Lemli-Opitz...
questionsmedicales.fr › Sciences de l'information › Méthodologies informatiques › Simulation numérique › Simulation de docking moléculaire › Bile acid biosynthesis in Smith-Lemli-Opitz...
questionsmedicales.fr › Maladies métaboliques et nutritionnelles › Maladies métaboliques › Erreurs innées du métabolisme › Erreurs innées du métabolisme des stéroïdes › Syndrome de Smith-Lemli-Optiz › Bile acid biosynthesis in Smith-Lemli-Opitz...